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Thyrotropin alfa is a heterodimeric glycoprotein containing human thyroid stimulating hormone (TSH). It is used as an adjunctive diagnostic tool for serum thyroglobulin (Tg) testing with or without radioiodine imaging in the follow-up of patients with well-differentiated thyroid cancer who have previously undergone thyroidectomy. Inter-lot variability in the Fourier transform near-infrared spectra of 30 samples obtained from four separate lots of Thyrogen® was detected in the Drug Quality Study (DQS). The vials fell into two distinct groups (rtst = 0.90, rlim= 0.98, p=0.02). In addition, one vial of the 30 (3%) appeared 4.7 multidimensional SDs from all of the other vials, suggesting that it also represents a different material.

Additional file 3. Table S2 Consumables and Reagents.

Additional file 1. Additional figures.

Additional file 1: Supplemental Table 1. Characteristic of individual studies for the association between inflammation-related gene polymorphisms and PD. Supplemental Table 2. Meta-analysis for the association between between inflammation-related gene polymorphisms and PD.

NGS facilities dedicated for clinical genomics need high QC standards, and they need continuously keeping track of their experiments and their metrics. As part of the Medical Genomics Visualization toolset (MGviz) we have developed an interactive software suit with R-Shiny and Python (Bokeh, crossfilter, flask and ReportLab) for automatic reports of QC for the whole NGS experiments in clinical diagnostics labs. The tool allows comparison of the current experiment with historic data to see the performance of the sequencher, checking different metrics for coverage and variations, warning for large copy number regions In addition it remembers decisions over annotations, helps in variant prioritization, segregation and finding compound heterozygotes and make automatic historical reports of pathogenic variants informed by the lab.

In high throughput clinical genetics environments it is crucial to keep track of samples and have methods to double check that results from the lab are correct and belongs to the original sample. There are such methods available commercially but are expensive and based in genotyping methodology so extra processing is needed. At imegen we have developed a new method for double checking sample integrity during the NGS pipeline. We have created a plasmid that contains the sequences for a region of a distal 3'UTR captured by the TSO probes that is not used in clinical reports and added synthetic unique barcodes in the middle of the sequence. Plasmids are added to the DNA before starting the NGS pipeline and the unique part of the sequences of the plasmids captured by the TSO sequencing allows us to obtain the ID of the sample and check the identity. We have create a software and test data for automatic deployment of this procedure in any exome capture sequencing facility.

In high throughput clinical genetics environments it is crucial to keep track of samples and have methods to double check that results from the lab are correct and belongs to the original sample. There are such methods available commercially but are expensive and based in genotyping methodology so extra processing is needed. We have developed a new method for double checking sample integrity during the NGS pipeline. We have created a plasmid that contains the sequences for a region of a distal 3'UTR captured by the TSO probes that is not used in clinical reports and added synthetic unique barcodes in the middle of the sequence. Plasmids are added to the DNA before starting the NGS pipeline and the unique part of the sequences of the plasmids captured by the TSO sequencing allows us to obtain the ID of the sample and check the identity. We have create a software and test data for automatic deployment of this procedure in any exome capture sequencing facility.